ITGB3BP (integrin subunit beta 3 binding protein)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 23421 |
| Gene name | Integrin subunit beta 3 binding protein |
| Gene symbol | ITGB3BP |
| Synonyms (NCBI Gene) |
CENP-RCENPRHSU37139NRIF3TAP20
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| Chromosome | 1 |
| Chromosome location | 1p31.3 |
| Summary | This gene encodes a transcriptional coregulator that binds to and enhances the activity of members of the nuclear receptor families, thyroid hormone receptors and retinoid X receptors. This protein also acts as a corepressor of NF-kappaB-dependent signali |
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miRNA
miRNA information provided by mirtarbase database.
17
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Transcription factors
Transcription factors information provided by TRRUST V2 database.
1
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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Q13352 | ||||||||||
| Protein name | Centromere protein R (CENP-R) (Beta-3-endonexin) (Integrin beta-3-binding protein) (Nuclear receptor-interacting factor 3) | ||||||||||
| Protein function | Transcription coregulator that can have both coactivator and corepressor functions. Isoform 1, but not other isoforms, is involved in the coactivation of nuclear receptors for retinoid X (RXRs) and thyroid hormone (TRs) in a ligand-dependent fas | ||||||||||
| PDB | 7PB8 , 7PKN , 7QOO , 7R5S , 7R5V , 7XHN , 7XHO , 7YWX , 7YYH | ||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Widely expressed. Expressed in spleen, thymus, prostate, ovary, small intestine and white blood cells. Highly expressed in testis and colon. Isoform 4 is expressed in platelets, lymphocytes and granulocytes. {ECO:0000269|PubMed:1186470 | ||||||||||
| Sequence |
MPVKRSLKLDGLLEENSFDPSKITRKKSVITYSPTTGTCQMSLFASPTSSEEQKHRNGLS |
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| Sequence length | 177 | ||||||||||
| Interactions | View interactions | ||||||||||
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Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Evidence Score:
★☆☆☆☆ Gene-disease association found in Text Mining only
★★☆☆☆ Found in Text Mining and Unknown/Other Associations
★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources
★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
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Related Genes
Genes most often co-reported with ITGB3BP across shared curated disease and pathway associations.
5
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Diseases Linked via Similar Genes
Diseases curated for genes most similar to ITGB3BP (see Related Genes above), that are NOT already directly curated for ITGB3BP itself -- a lead worth checking, not a confirmed association.
5
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